Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults

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Classical Forms of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Adults

Anne Bachelot, Zeina Chakthoura, Agn?s Rouxel, J?rome Dulon, Philippe Touraine

 

Department of Endocrinology and Reproductive Medicine, Groupe Hospitalier Piti?-Salp?tri?re, and Centre de R?f?rence des Maladies Endocriniennes Rares de la Croissance, Paris, France

 

Horm Res 2008;69:203-211 (DOI: 10.1159/000113020)

 

Key Words

 

* Congenital adrenal hyperplasia

* Fertility

* Bone mineral density

* Body mass index

* Adrenal rest tumors

* 21-OH deficiency

 

Abstract

 

During childhood, the main aims of the medical treatment of congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase are to prevent salt loss and virilization and to attain normal stature and normal puberty. As such, there is a narrow therapeutic window through which the intended results can be achieved. In adulthood, the clinical management has received little attention, but recent studies have shown the relevance of long-term follow-up of these patients. The aims here are to review the multiple clinical, hormonal and metabolic abnormalities that could be found in adult CAH patients as such a decrease in bone mineral density, overweight and disturbed reproductive functions. In women with classic CAH, a low fertility rate is reported, and is probably the consequence of multiple factors including neuroendocrine and hormonal factors, feminizing surgery, and psychological factors. Men with CAH may present hypogonadism either through the effect of adrenal rests or from suppression of gonadotropins resulting in infertility. Therefore a multidisciplinary team with knowledge of CAH should carefully follow up these patients, from childhood through to adulthood, to avoid these complications and to ensure treatment compliance and tight control of the adrenal androgens.

 

Copyright ? 2008 S. Karger AG, Basel

 

Author Contacts

 

Prof. Philippe Touraine

Department of Endocrinology and Reproductive Medicine

Groupe Hospitalier Piti?-Salp?tri?re, 47-83, boulevard de l'H?pital

FR-75651 Paris Cedex 13 (France)

Tel. +33 1 42 16 02 54, Fax +33 1 42 16 02 55, E-Mail philippe.touraine@psl.aphp.fr

 

Article Information

 

Received: December 21, 2006

Accepted: July 31, 2007

Published online: January 21, 2008

Number of Print Pages : 9

Number of Figures : 1, Number of Tables : 3, Number of References : 65

 

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